A case of melanoma with rhabdomyoblastic differentiation is presented in the context of the previously reported cases. The emerging literature seeking to identify the molecular basis of rhabdoid and rhabdomyoblastic differentiation, as well as their poor prognosis, is reviewed. The combination of a diverse range of morphology and the potential for spontaneous primary tumor regression, despite metastasis, makes the accurate diagnosis of melanoma challenging. Histopathology review is often recommended in these cases, as is referral to a specialized cancer center for discussion in a multidisciplinary meeting. Improved recognition of this rare pattern of melanoma morphology may provide the means for omics-based techniques to identify novel therapeutic targets to improve the prognostic outlook for these patients.
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http://dx.doi.org/10.1177/1066896913510031 | DOI Listing |
Genes Chromosomes Cancer
January 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, presenting with heterogeneous clinical and molecular subtypes. While gene fusions are predominantly associated with alveolar RMS, spindle cell RMS, especially congenital and intraosseous variants, are also linked to specific gene fusions. Furthermore, recently, FGFR1 kinase-driven RMSs were published.
View Article and Find Full Text PDFZhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan 528000, China.
To investigate the clinicopathological and genetic features of infantile rhabdomyofibrosarcoma (IRFS) with EGFR kinase domain duplication (EGFR-KDD). The clinical, morphological and immunohistochemical features of three IRFS with EGFR-KDD diagnosed from January 2022 to January 2024 at Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan, China were retrospectively analyzed using PCR or next generation sequencing technique; and related literature was reviewed. There were 1 male and 2 females, aged at presentation ranging from 1 to 4 years.
View Article and Find Full Text PDFAm J Dermatopathol
December 2024
Department of Pathology, Rutgers University New Jersey Medical School, Newark, NJ; and.
Malignant phyllodes tumor (PT) of the breast is a rare fibroepithelial neoplasm that shows variegated histomorphology and an aggressive clinical course. Cutaneous metastases are rare. A 68 year old woman presented with a palpable left breast mass identified on a routine breast exam.
View Article and Find Full Text PDFZhonghua Bing Li Xue Za Zhi
December 2024
Department of Pathology, Sun Yat-sen University Cancer Center, Guangzhou510060, China.
To investigate the clinicopathological features, immunophenotype, molecular characteristics, and differential diagnosis of primary intracranial DICER1-mutant sarcoma in order to better understand this tumor type. A retrospective analysis was conducted on 7 cases of primary intracranial DICER1-mutant sarcoma diagnosed in the Department of Pathology, Sun Yat-sen University Cancer Center, Guangzhou, China between 2021 and 2023 using next-generation sequencing. At the same time, 10 gliosarcomas, 4 intracranial FET::CREB fusion-positive mesenchymal tumors, 4 malignant meningiomas, 3 malignant solitary fibrous tumors, 3 malignant peripheral nerve sheath tumors, 3 synovial sarcomas and 3 rhabdomyosarcomas (total 30 cases) were selected as control.
View Article and Find Full Text PDFIn Vivo
October 2024
Department of Pathology, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
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